DisGeNET - a database of gene-disease associations

Source: ALL

Disease: CILIARY DYSKINESIA, PRIMARY, 12 ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	221421
Gene Symbol:	RSPH9

RSPH9

CUI:	C2675228
Disease:	CILIARY DYSKINESIA, PRIMARY, 12

CILIARY DYSKINESIA, PRIMARY, 12

0.600

CausalMutation

CLINVAR

Entrez Id:	221421
Gene Symbol:	RSPH9

RSPH9

CUI:	C2675228
Disease:	CILIARY DYSKINESIA, PRIMARY, 12

CILIARY DYSKINESIA, PRIMARY, 12

0.600

Biomarker

GENOMICS_ENGLAND

Entrez Id:	221421
Gene Symbol:	RSPH9

RSPH9

CUI:	C2675228
Disease:	CILIARY DYSKINESIA, PRIMARY, 12

CILIARY DYSKINESIA, PRIMARY, 12

0.600

Biomarker

GENOMICS_ENGLAND

Entrez Id:	221421
Gene Symbol:	RSPH9

RSPH9

CUI:	C2675228
Disease:	CILIARY DYSKINESIA, PRIMARY, 12

CILIARY DYSKINESIA, PRIMARY, 12

0.600

Biomarker

CTD_human